P20648
PR
Gene name |
ATP4A |
Protein name |
Potassium-transporting ATPase alpha chain 1 |
Names |
Gastric H(+)/K(+) ATPase subunit alpha, Proton pump |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:495 |
EC number |
7.2.2.19: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P20648
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P20648-F1 | Predicted | AlphaFoldDB |
797 variants for P20648
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs143227044 | 4 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 5 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381565 rs758760854 |
5 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405396786 rs1195219772 |
5 | E>G | No |
ClinGen gnomAD |
|
|
COSM995026 rs1432550124 CA405396762 |
6 | N>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9381564 rs556907049 |
7 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779339914 CA9381563 |
8 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs543393075 CA307766071 |
9 | L>H | No |
ClinGen 1000Genomes |
|
|
rs780650317 CA9381560 |
11 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9381561 rs754340114 |
11 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs201056106 CA405396638 |
12 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9381559 rs201056106 |
12 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398291722 CA405396602 |
14 | L>P | No |
ClinGen gnomAD |
|
|
rs1010232521 CA307766067 |
16 | P>S | No |
ClinGen TOPMed |
|
|
rs767855442 CA9381557 |
18 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9381555 COSM3532611 rs775448586 |
20 | G>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762780274 CA9381556 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA405396484 rs376777209 |
21 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376777209 CA9381552 |
21 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405396459 rs1219177374 |
22 | M>I | No |
ClinGen TOPMed |
|
|
CA9381550 rs746570791 |
22 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1035958833 CA307766060 |
23 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9381547 rs748468684 |
26 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771731146 CA9381548 |
26 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs771731146 CA9381549 |
26 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1411314753 CA405396353 |
28 | K>E | No |
ClinGen gnomAD |
|
|
rs779215224 CA9381546 |
28 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9381545 rs755344734 |
30 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755344734 CA405396310 |
30 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9381544 rs749787330 |
31 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381541 rs140993241 |
32 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3787639 CA9381542 rs140993241 |
32 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA405396241 rs1306948312 |
33 | G>D | No |
ClinGen gnomAD |
|
|
CA405396231 rs1302102804 |
34 | G>S | No |
ClinGen gnomAD |
|
|
CA307766049 rs868366556 |
35 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9381538 rs147319454 |
35 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477623716 CA405396193 |
36 | G>D | No |
ClinGen TOPMed |
|
|
rs888234661 CA307766047 |
37 | G>D | No |
ClinGen TOPMed |
|
|
CA405396137 rs1325645902 |
39 | R>K | No |
ClinGen gnomAD |
|
|
rs751871819 CA9381537 |
41 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765062885 CA405395908 |
47 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759310167 CA9381535 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA307766041 rs1046745150 |
50 | M>L | No |
ClinGen TOPMed |
|
|
CA405395837 rs200082565 |
50 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9381533 rs200082565 |
50 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149648990 CA405395793 |
52 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149648990 CA9381532 |
52 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1032059452 CA307766008 |
54 | D>E | No |
ClinGen TOPMed |
|
|
CA9381505 rs746356652 |
55 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381504 rs781779919 |
55 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405395577 rs1256828399 |
58 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200588214 CA405395540 |
60 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200588214 CA9381502 |
60 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM187935 CA9381500 rs200588214 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599576201 CA405395521 |
61 | E>G | No |
ClinGen Ensembl |
|
|
CA9381498 rs758576405 |
63 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381497 rs752999139 |
64 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1357447631 CA405395347 |
69 | S>C | No |
ClinGen gnomAD |
|
|
rs370320042 CA9381495 |
71 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 73 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405394501 rs1478641421 |
74 | L>P | No |
ClinGen gnomAD |
|
|
CA9381475 COSM1184096 rs373540988 |
76 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA405394475 rs1454140346 |
77 | S>C | No |
ClinGen gnomAD |
|
|
rs751557721 CA9381473 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA405394435 rs1198836587 |
80 | A>S | No |
ClinGen gnomAD |
|
|
rs763490645 CA9381472 |
81 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1345599290 CA405394385 |
84 | L>R | No |
ClinGen gnomAD |
|
|
CA405394391 rs1194788657 |
84 | L>V | No |
ClinGen gnomAD |
|
|
rs752289225 CA405394377 |
85 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752289225 CA9381470 |
85 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405394378 rs1282429868 |
85 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405394337 rs1272642788 |
88 | P>L | No |
ClinGen TOPMed |
|
|
rs1309731793 CA405394344 |
88 | P>S | No |
ClinGen gnomAD |
|
|
CA405394328 rs1328432498 |
89 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766886010 CA9381466 |
90 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766886010 CA405394320 |
90 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1415162075 CA405394296 |
91 | L>P | No |
ClinGen gnomAD |
|
|
rs1488133897 CA405394303 |
91 | L>V | No |
ClinGen TOPMed |
|
|
rs1172272670 CA405394275 |
92 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150414399 CA9381465 |
92 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9381463 rs746484584 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1325322 CA9381464 rs773824281 |
95 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470958067 CA405394188 |
98 | P>L | No |
ClinGen gnomAD |
|
|
CA9381459 rs745622171 |
99 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs185817713 CA9381460 |
99 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185817713 CA9381461 |
99 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61746803 CA9381458 |
100 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9381456 rs746909657 |
101 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405394103 rs10422358 |
103 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405394107 rs1347067380 |
103 | F>V | No |
ClinGen gnomAD |
|
|
CA405394087 rs145425383 |
104 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145425383 CA405394085 |
104 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145425383 CA9381454 |
104 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140330053 CA9381453 |
104 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405394021 rs1599575800 |
107 | L>P | No |
ClinGen Ensembl |
|
|
CA9381449 rs766832949 |
109 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750826220 CA9381447 |
110 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA405393964 rs1160798535 |
111 | L>P | No |
ClinGen gnomAD |
|
|
CA405393951 rs1407753737 |
112 | Q>* | No |
ClinGen gnomAD |
|
|
CA9381445 rs761748330 COSM566212 |
113 | C>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9381443 rs768762915 |
116 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599575769 CA405393784 |
117 | V>G | No |
ClinGen Ensembl |
|
|
rs1485296185 CA405393751 |
119 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770629738 CA9381440 COSM1184099 |
120 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405393658 rs1190770516 |
124 | I>V | No |
ClinGen gnomAD |
|
|
rs777515851 CA9381438 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9381437 rs772073351 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254605325 CA405393581 |
127 | A>V | No |
ClinGen gnomAD |
|
|
rs993615662 CA307765858 |
128 | I>N | No |
ClinGen TOPMed |
|
|
rs1191874718 CA405393549 |
129 | Q>R | No |
ClinGen TOPMed |
|
|
rs1239967134 CA405393516 |
131 | S>G | No |
ClinGen TOPMed |
|
|
CA9381435 rs778539800 |
132 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753533039 CA405393379 |
137 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381433 rs753533039 |
137 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405393361 rs750821353 |
138 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381431 rs543269125 |
138 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9381429 rs533067520 |
139 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405392974 rs1280002522 |
141 | L>Q | No |
ClinGen gnomAD |
|
|
CA9381406 rs752799079 |
141 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs60726757 CA405392885 |
145 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM309366 rs776771707 CA405392881 |
146 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776771707 CA9381403 |
146 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405392864 rs1568316156 |
147 | L>V | No |
ClinGen Ensembl |
|
|
CA9381400 rs548962483 |
148 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381401 rs778926439 |
148 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768735445 CA9381398 |
151 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779261437 CA9381397 |
153 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775032446 CA9381396 |
154 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA307765532 rs761170671 |
155 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA307765533 rs761170671 |
155 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9381394 rs745521008 |
156 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA405392665 CA405392666 rs780776159 |
159 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381392 rs757551633 |
160 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747389194 CA9381391 |
161 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1280064609 CA405392639 |
161 | Q>R | No |
ClinGen gnomAD |
|
|
rs778206869 CA9381390 |
162 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs758938656 CA9381389 |
163 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9381388 rs753188424 |
165 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405392443 rs1373618892 |
170 | A>D | No |
ClinGen gnomAD |
|
|
rs148572774 CA9381385 |
170 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148572774 CA9381386 |
170 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1172757345 CA405392432 |
171 | S>T | No |
ClinGen gnomAD |
|
|
rs1163318022 CA405392399 |
173 | K>R | No |
ClinGen Ensembl |
|
|
CA405392382 rs1186438667 |
174 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761648811 CA9381383 |
178 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748522582 CA9381354 |
180 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA405390941 rs1467767126 |
181 | T>P | No |
ClinGen TOPMed |
|
|
CA405390926 rs1599574953 |
182 | V>D | No |
ClinGen Ensembl |
|
|
CA405390917 rs1568316030 |
183 | I>L | No |
ClinGen Ensembl |
|
|
COSM259028 CA9381353 rs779456771 |
184 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1371898223 CA405390899 |
184 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA307765487 rs549194754 |
185 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA405390859 rs1171709272 |
186 | G>R | No |
ClinGen TOPMed |
|
|
rs756276887 CA9381349 |
186 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA405390794 rs1195049939 |
188 | K>* | No |
ClinGen gnomAD |
|
|
rs1423572314 CA405390735 |
190 | Q>L | No |
ClinGen TOPMed |
|
|
CA405390695 rs375693219 |
192 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781628677 CA9381347 |
193 | A>T | Variant assessed as Somatic; 4.709e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758198754 CA9381346 |
193 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9381345 rs149124559 |
194 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599574917 CA405390557 |
198 | V>M | No |
ClinGen Ensembl |
|
|
CA405390479 rs1438972860 |
200 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200594437 CA9381342 |
200 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200594437 CA9381341 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201483901 CA307765477 |
204 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1339700578 CA405390282 |
207 | G>R | No |
ClinGen gnomAD |
|
|
CA405390197 rs1599574896 |
210 | V>G | No |
ClinGen Ensembl |
|
|
COSM1564492 CA9381337 rs762209271 |
212 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 212 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894252652 CA307765473 |
213 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA307765470 rs376213037 |
215 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9381334 rs141192219 |
215 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM711958 CA405390078 rs141192219 |
215 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769990049 CA9381333 |
218 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769990049 COSM995024 CA9381332 |
218 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374651698 CA307765465 |
219 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9381331 rs569237887 |
220 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405389931 rs1204267061 |
221 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282176975 CA405389918 |
222 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405389786 rs747283592 |
223 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405389769 rs1599574836 |
224 | V>G | No |
ClinGen Ensembl |
|
|
CA405389774 rs1280316841 |
224 | V>L | No |
ClinGen gnomAD |
|
|
CA9381327 rs778520288 |
225 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370650252 CA9381326 |
228 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1416543985 CA405389629 |
228 | S>T | No |
ClinGen TOPMed |
|
|
rs766365646 CA9381324 |
229 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA405389514 rs1409197474 |
232 | E>K | No |
ClinGen gnomAD |
|
|
rs749979299 CA9381321 |
233 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA405389409 rs1285868983 |
234 | E>K | No |
ClinGen TOPMed |
|
|
CA405389252 rs774068365 |
237 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774068365 CA9381318 |
237 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9381317 rs764300130 |
238 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259593854 CA405389245 |
238 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1441594116 CA405389224 |
239 | S>A | No |
ClinGen gnomAD |
|
|
COSM3692657 CA9381316 RCV000954774 rs139075511 |
240 | P>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200192724 CA307765451 |
241 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200192724 CA307765449 |
241 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs142971981 CA9381314 |
243 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 243 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381310 rs766870345 |
245 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405389009 rs1320762593 |
247 | P>R | No |
ClinGen gnomAD |
|
|
rs778056969 CA9381309 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402084798 CA405388937 |
249 | E>D | No |
ClinGen gnomAD |
|
|
COSM272372 rs754720662 CA9381308 |
251 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs144661332 COSM439267 CA9381307 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1419432763 CA405388783 |
253 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9381304 rs750384600 |
254 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766880837 CA9381303 |
261 | L>H | No |
ClinGen ExAC |
|
|
rs761541363 CA307765441 |
262 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA405388412 rs1251428216 |
263 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1251428216 CA405388416 |
263 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
VAR_019428 CA9381267 rs2733743 |
265 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745735354 CA9381269 CA405388378 |
265 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745735354 CA9381268 |
265 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405388337 rs1357393399 |
266 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 269 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381262 rs752329266 |
270 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1245750 rs959527964 CA307765361 |
272 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA405388233 rs1298676526 |
273 | G>D | No |
ClinGen gnomAD |
|
|
CA9381258 rs368041237 |
274 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368041237 CA9381259 |
274 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381257 rs142715926 COSM1582405 |
275 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9381256 rs750910096 |
275 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9381255 rs767519233 |
278 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381253 rs140284450 |
280 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405388135 rs140284450 |
280 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM995023 CA9381252 rs764349733 |
280 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium small_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9381251 rs759220170 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405388104 rs1599574512 |
282 | A>S | No |
ClinGen Ensembl |
|
|
CA405388086 rs142896304 |
283 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142896304 CA9381249 |
283 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9381246 rs375031967 |
285 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1051650448 CA307765348 |
286 | S>A | No |
ClinGen TOPMed |
|
|
CA9381244 rs778682745 |
286 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9381243 rs369405068 |
287 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405388003 rs1599574486 |
288 | V>G | No |
ClinGen Ensembl |
|
|
rs780410935 CA9381242 |
288 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780410935 CA9381241 |
288 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381239 rs539010027 |
289 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539010027 CA307765345 |
289 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751678328 CA9381236 |
291 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9381237 rs757306117 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405387931 rs1199862019 |
292 | K>R | No |
ClinGen TOPMed |
|
|
rs1454499923 CA405387907 |
294 | P>T | No |
ClinGen gnomAD |
|
|
CA405387873 COSM995022 rs1472277634 |
296 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA405387858 rs1568315684 |
296 | A>V | No |
ClinGen Ensembl |
|
|
CA9381233 rs566794736 |
297 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381230 rs140861099 |
300 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs536354696 CA9381228 |
301 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773953986 CA9381227 |
303 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1231284311 CA405387732 |
305 | I>L | No |
ClinGen gnomAD |
|
|
CA9381226 rs768066966 |
305 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273285199 CA405387716 |
306 | I>S | No |
ClinGen gnomAD |
|
|
rs201359040 CA9381222 |
307 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381223 rs567483940 |
307 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201359040 CA9381221 |
307 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317479978 CA405387657 |
311 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs368547129 CA9381218 |
319 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375458988 CA9381217 |
320 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395233145 CA405387477 |
322 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs61730200 CA9381216 |
323 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405387469 rs61730200 |
323 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9381215 rs765433510 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA405387428 rs1368434053 |
325 | G>S | No |
ClinGen gnomAD |
|
|
rs1599574412 CA405387387 |
326 | Y>* | No |
ClinGen Ensembl |
|
|
CA9381214 rs760492629 |
326 | Y>H | No |
ClinGen ExAC |
|
|
CA307765322 rs201382109 |
327 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405387379 rs1194551707 |
327 | T>P | No |
ClinGen gnomAD |
|
|
CA9381213 rs201382109 |
327 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599574403 CA405387359 |
328 | F>L | No |
ClinGen Ensembl |
|
|
COSM995021 CA9381212 rs199790968 |
330 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405387247 rs1599574391 |
333 | V>G | No |
ClinGen Ensembl |
|
|
rs1395364766 CA405387228 |
334 | F>L | No |
ClinGen gnomAD |
|
|
rs774438228 CA9381209 |
336 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1427658558 CA405387189 |
336 | M>V | No |
ClinGen TOPMed |
|
|
rs768211324 CA9381208 |
337 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1434170344 CA405387121 |
337 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775185676 CA9381206 |
339 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599574367 CA405387049 |
341 | A>G | No |
ClinGen Ensembl |
|
|
rs1467189454 CA405387008 |
343 | V>A | No |
ClinGen TOPMed |
|
|
rs1372084548 CA405386957 |
345 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327968053 CA405386931 |
346 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1327968053 CA405386926 |
346 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 348 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307765189 rs80147828 |
357 | L>R | No |
ClinGen Ensembl |
|
|
CA9381171 rs758218779 |
357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752692190 CA9381170 |
358 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA405386508 rs1293515862 |
359 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405386402 rs1409139863 |
364 | S>N | No |
ClinGen gnomAD |
|
|
CA9381166 rs766064812 |
367 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA405386279 rs1185194603 |
368 | V>G | No |
ClinGen gnomAD |
|
|
rs1238988064 CA405386294 |
368 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760994831 CA9381165 |
369 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs772502369 CA9381163 |
370 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9381162 rs748539056 |
371 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382047727 CA405386185 |
372 | L>R | No |
ClinGen gnomAD |
|
|
CA307765180 rs143430555 |
378 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447818254 CA405386063 |
379 | G>A | No |
ClinGen gnomAD |
|
|
rs1327409559 CA405386032 |
381 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs908819738 CA307765177 |
382 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3692656 CA405386013 rs908819738 |
382 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs749429539 CA9381159 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415937268 CA405385951 |
387 | D>G | No |
ClinGen gnomAD |
|
|
CA9381157 rs756366842 |
391 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307765167 rs369356784 |
396 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1190691983 CA405385818 |
397 | M>T | No |
ClinGen gnomAD |
|
|
rs141100442 CA307765165 |
397 | M>V | No |
ClinGen ESP |
|
|
CA9381156 rs746125854 |
403 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9381155 rs777371309 |
404 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs758215271 CA9381154 |
407 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228280933 CA405385660 |
408 | I>T | No |
ClinGen gnomAD |
|
|
CA405385654 rs1340428955 |
409 | H>N | No |
ClinGen gnomAD |
|
|
rs147779995 CA9381153 |
409 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA307765158 rs964462249 |
411 | A>D | No |
ClinGen TOPMed |
|
|
CA405385620 rs1436830658 |
412 | D>N | No |
ClinGen gnomAD |
|
|
rs765215549 CA307765154 |
414 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs765215549 CA9381152 |
414 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9381151 rs201466490 |
416 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1319277566 CA405385569 |
416 | D>N | No |
ClinGen gnomAD |
|
|
CA405385552 rs1321434923 |
417 | Q>E | No |
ClinGen gnomAD |
|
|
rs200972944 CA9381130 |
419 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529707108 CA9381129 |
420 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA307764904 rs960646987 |
421 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1210369983 CA405384212 |
423 | D>N | No |
ClinGen gnomAD |
|
|
rs764577189 CA9381126 |
425 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751932885 CA9381127 |
425 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381124 rs776143756 |
427 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9381123 rs769756341 |
428 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215003368 CA405384075 |
430 | R>W | No |
ClinGen gnomAD |
|
|
rs375401694 CA9381121 |
431 | A>E | Variant assessed as Somatic; 7.768e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375401694 CA405384063 |
431 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980625905 CA405384004 |
434 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA307764903 rs980625905 |
434 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405384009 rs1303285173 |
434 | R>W | No |
ClinGen gnomAD |
|
|
CA307764902 rs1040125386 |
435 | V>G | No |
ClinGen gnomAD |
|
|
CA405383975 rs1457799914 |
436 | L>F | No |
ClinGen gnomAD |
|
|
rs771221225 CA9381120 |
436 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA405383911 rs778628169 |
439 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405383925 rs1184004177 |
439 | C>Y | No |
ClinGen gnomAD |
|
|
rs963106832 CA307764900 |
440 | N>H | No |
ClinGen TOPMed |
|
|
COSM1392898 CA405383871 rs1355489531 |
441 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768449697 CA9381116 |
442 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1209021800 CA405383820 |
444 | F>L | No |
ClinGen gnomAD |
|
|
rs1017034119 CA405383788 CA307764899 |
445 | K>N | No |
ClinGen TOPMed |
|
|
rs749222176 CA9381115 |
446 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780026842 CA9381114 |
447 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA405383765 rs1349844507 |
447 | G>V | No |
ClinGen gnomAD |
|
|
rs1313139642 CA405383746 |
448 | Q>R | No |
ClinGen gnomAD |
|
|
CA405383710 rs1376742526 |
449 | D>G | No |
ClinGen gnomAD |
|
|
rs1302413714 CA405383687 |
450 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405383682 rs1302413714 |
450 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9381111 rs780600333 |
451 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1484944575 CA405383656 |
452 | P>T | No |
ClinGen TOPMed |
|
|
rs1457146122 CA405383565 |
453 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1353611976 CA405383610 |
453 | V>M | No |
ClinGen gnomAD |
|
|
CA405383552 rs1422387911 |
454 | P>L | No |
ClinGen gnomAD |
|
|
CA9381110 rs756885561 |
454 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs922482777 CA307764897 |
455 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9381109 rs751272693 |
455 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381098 rs768429083 |
456 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9381097 rs373619391 |
456 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9381096 rs144295630 |
457 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9381094 rs745814976 |
459 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381093 rs780697195 |
462 | A>V | No |
ClinGen ExAC TOPMed |
|
|
COSM3959946 rs371850323 CA307764894 |
464 | E>G | lung [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
| TCGA novel | 470 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157889766 CA405383190 |
470 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 471 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307764893 rs951197574 |
472 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777625012 CA9381090 |
472 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9381091 rs777625012 |
472 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758812621 CA9381089 |
475 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA405383069 rs1166266636 |
476 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405383053 rs1568315072 |
477 | N>H | No |
ClinGen Ensembl |
|
|
rs913562576 CA405383031 |
478 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs913562576 CA307764891 |
478 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9381085 rs754311608 |
479 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754311608 CA9381086 |
479 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381083 rs760804873 |
481 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA405382958 rs773403696 |
482 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9381082 rs773403696 |
482 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405382962 rs1226105415 |
482 | R>W | No |
ClinGen gnomAD |
|
|
rs767770382 CA405382950 |
483 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767770382 CA9381081 |
483 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9381080 rs762057852 |
484 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9381079 rs775306673 |
485 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201223266 CA9381078 |
487 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9381077 rs745753748 |
490 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA405382738 rs1412238409 |
492 | P>L | No |
ClinGen gnomAD |
|
|
rs1289456944 CA405382753 |
492 | P>T | No |
ClinGen gnomAD |
|
|
CA9381075 rs770551121 |
494 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405382715 rs1568315027 |
494 | N>T | No |
ClinGen Ensembl |
|
|
rs1408982669 CA405382676 |
495 | S>F | No |
ClinGen gnomAD |
|
|
rs150040599 CA9381074 |
496 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150040599 CA405382671 |
496 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405382631 rs1173990604 |
497 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA307764887 rs367948882 |
497 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405382639 rs1173990604 |
497 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405382548 rs1461355259 |
500 | Q>P | No |
ClinGen gnomAD |
|
|
CA9381031 rs774027411 |
504 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs768156845 CA405382256 |
504 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748995904 CA9381029 |
505 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA405382188 rs1297791355 |
507 | E>D | No |
ClinGen gnomAD |
|
|
rs780338130 CA9381028 |
508 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307764816 rs900562641 |
509 | P>L | No |
ClinGen Ensembl |
|
|
rs1599572982 CA405382139 |
509 | P>S | No |
ClinGen Ensembl |
|
|
CA307764815 rs1020971073 |
510 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1392895 rs1437074011 CA405382128 |
510 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 513 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405382005 rs1599572968 |
514 | H>P | No |
ClinGen Ensembl |
|
|
rs1370941499 CA405382000 |
514 | H>Q | No |
ClinGen gnomAD |
|
|
rs757335787 CA9381024 |
516 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418887178 CA405381976 |
517 | V>M | No |
ClinGen gnomAD |
|
|
rs1245437109 CA405381849 |
523 | E>D | No |
ClinGen gnomAD |
|
|
rs1599572950 CA405381856 |
523 | E>Q | No |
ClinGen Ensembl |
|
|
rs777938519 CA9381022 |
524 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405381781 rs1243467237 |
527 | E>Q | No |
ClinGen TOPMed |
|
|
rs1483554588 CA405381767 |
528 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9381021 rs758501127 |
528 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139397080 CA9381020 RCV000890598 |
530 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1369140674 CA405381599 |
536 | G>D | No |
ClinGen gnomAD |
|
|
rs1192773108 CA405381493 |
539 | L>R | No |
ClinGen gnomAD |
|
|
rs1404268895 CA405381473 |
540 | P>Q | No |
ClinGen gnomAD |
|
|
CA9381014 rs773688960 |
542 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9381015 rs761844021 |
542 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763678248 CA9381013 |
543 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9381012 rs762447242 |
545 | W>C | No |
ClinGen ExAC |
|
| TCGA novel | 546 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145898907 CA405381320 |
547 | E>* | No |
ClinGen 1000Genomes TOPMed |
|
|
rs145898907 CA307764813 |
547 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1427304921 CA405381290 |
548 | A>D | No |
ClinGen gnomAD |
|
|
CA405381305 rs1157696354 |
548 | A>T | No |
ClinGen TOPMed |
|
|
rs775191254 CA9381011 |
549 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA405381228 rs1254383727 |
551 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1452406060 CA405381169 |
553 | Y>C | No |
ClinGen TOPMed |
|
|
rs770132590 CA9381010 |
554 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1178608464 CA405381124 |
555 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 556 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313379673 CA405381075 |
557 | G>A | No |
ClinGen gnomAD |
|
|
CA9381008 rs777090356 |
558 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1599572868 CA405381053 |
559 | L>Q | No |
ClinGen Ensembl |
|
|
CA405380966 rs1205735927 |
563 | V>A | No |
ClinGen TOPMed |
|
|
CA405380970 rs1279081161 |
563 | V>M | No |
ClinGen gnomAD |
|
|
CA405380958 rs1372383613 |
564 | L>F | No |
ClinGen gnomAD |
|
|
rs368746317 CA9380992 |
565 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752236202 CA307764809 |
565 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9381003 rs752236202 |
565 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976318654 CA307764746 |
568 | Q>E | No |
ClinGen Ensembl |
|
|
rs1470449059 CA405380724 |
568 | Q>H | No |
ClinGen TOPMed |
|
|
CA405380716 rs1373718707 |
569 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9380991 rs759214754 |
573 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405380532 rs1349292225 |
575 | D>E | No |
ClinGen TOPMed |
|
|
CA405380522 rs1599572572 |
576 | Y>S | No |
ClinGen Ensembl |
|
|
rs776928883 CA9380989 |
577 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1226065679 CA405380513 |
577 | P>S | No |
ClinGen TOPMed |
|
|
rs771335770 CA9380988 |
578 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773834606 CA9380987 |
579 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773834606 CA9380986 |
579 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA405380438 rs1229432912 |
581 | A>T | No |
ClinGen gnomAD |
|
|
rs200791532 CA9380984 COSM238902 |
583 | D>N | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405380385 rs1392141891 |
584 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405380384 rs1392141891 |
584 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA307764743 rs952153094 |
585 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA307764744 rs1006382556 |
585 | E>K | No |
ClinGen TOPMed |
|
|
rs1006382556 CA307764745 |
585 | E>Q | No |
ClinGen TOPMed |
|
|
rs61742920 CA307764742 |
586 | A>G | No |
ClinGen Ensembl |
|
|
rs749535766 CA9380981 |
587 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952533559 CA307764741 |
588 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780784378 CA9380980 |
590 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs146075687 CA9380979 |
591 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA307764740 rs1026823484 |
592 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1026823484 CA405380210 |
592 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9380977 rs764144380 |
593 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405380195 rs1427434013 |
593 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405380180 rs764144380 |
593 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142820986 CA307764739 |
595 | C>Y | No |
ClinGen ESP gnomAD |
|
|
CA405380086 rs138327542 |
597 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9380976 rs138327542 |
597 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764745880 CA9380974 |
598 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 601 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759126953 CA9380973 |
602 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9380971 rs753532609 |
606 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA307764738 rs561974216 |
607 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766648576 CA9380970 |
607 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307764736 rs1046317591 |
610 | V>G | No |
ClinGen Ensembl |
|
|
rs773568287 CA9380968 |
610 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405379813 rs1230047822 |
611 | P>L | No |
ClinGen TOPMed |
|
|
CA9380967 rs772594051 |
616 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9380966 rs762433608 |
618 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9380965 rs149515531 |
618 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762433608 CA405379649 |
618 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165827460 CA405379633 |
619 | T>A | No |
ClinGen gnomAD |
|
|
CA9380963 rs749521580 |
620 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1178488600 CA405379603 |
621 | G>A | No |
ClinGen gnomAD |
|
|
rs780384642 CA9380962 |
622 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746863905 CA9380960 |
623 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542424132 CA9380961 |
623 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405378114 rs1348973815 |
628 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405378075 rs1599572007 |
630 | D>A | No |
ClinGen Ensembl |
|
|
CA405378058 rs1599572005 |
631 | H>P | No |
ClinGen Ensembl |
|
|
CA405378015 rs1599571999 |
633 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 634 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405378002 rs1599571996 |
634 | T>P | No |
ClinGen Ensembl |
|
|
CA405377984 rs1404726499 |
635 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1007249420 CA307764619 |
635 | A>V | No |
ClinGen Ensembl |
|
|
rs778879380 CA405377950 |
637 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778879380 CA9380939 |
637 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307764618 rs888887677 |
638 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 639 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307764617 rs1028106478 |
643 | G>S | No |
ClinGen TOPMed |
|
|
CA405377847 rs1172383112 |
645 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9380938 rs150371575 |
646 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369354326 CA405377806 |
649 | S>G | No |
ClinGen TOPMed |
|
|
CA405377797 rs779455265 |
650 | E>* | No |
ClinGen ExAC TOPMed |
|
|
COSM3404134 rs779455265 CA9380936 |
650 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA307764616 rs368721895 |
652 | V>M | No |
ClinGen ESP |
|
|
rs1248791439 CA405377768 |
654 | D>G | No |
ClinGen gnomAD |
|
|
rs767990060 CA9380933 |
658 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA307764615 rs898108443 |
658 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1210757728 CA405377739 |
659 | L>F | No |
ClinGen gnomAD |
|
|
CA405377740 rs1210757728 |
659 | L>V | No |
ClinGen gnomAD |
|
|
CA9380932 rs757758386 |
660 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9380931 rs752094325 |
660 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752094325 CA405377733 |
660 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405377719 rs1381385806 |
663 | V>L | No |
ClinGen gnomAD |
|
|
CA307764614 rs267605431 |
664 | D>N | No |
ClinGen Ensembl |
|
|
CA405377704 rs1488923632 |
665 | Q>* | No |
ClinGen TOPMed |
|
|
CA9380929 rs763403043 |
665 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138654635 CA9380928 |
668 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145767701 CA9380927 COSM1184094 |
668 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9380926 rs145767701 |
668 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405377682 rs1317597726 |
669 | K>Q | No |
ClinGen gnomAD |
|
|
rs1459787937 CA405377662 |
670 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs867542713 CA307764607 |
671 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9380900 rs561359329 |
672 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9380899 COSM329161 rs749245477 |
672 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs561359329 CA9380901 |
672 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405377637 rs1435558753 |
674 | C>Y | No |
ClinGen gnomAD |
|
|
CA9380897 rs769329382 |
675 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs745415480 CA9380896 |
677 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9380895 rs780882384 |
679 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA405377561 rs1229302653 |
680 | Q>H | No |
ClinGen TOPMed |
|
|
RCV000966613 rs61729956 CA9380894 |
680 | Q>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 681 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 683 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746669377 CA405377518 |
684 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036467168 CA405377522 |
684 | M>L | No |
ClinGen gnomAD |
|
|
rs746669377 CA9380893 |
684 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307764606 rs1036467168 |
684 | M>V | No |
ClinGen gnomAD |
|
|
rs1354006829 CA405377475 |
687 | S>L | Variant assessed as Somatic; 4.739e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778214581 CA9380892 |
687 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9380891 rs199693426 |
688 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405377453 rs1427766713 |
689 | L>P | No |
ClinGen gnomAD |
|
|
CA307764603 rs1008984874 |
690 | V>L | No |
ClinGen TOPMed |
|
|
rs779336531 CA9380889 |
691 | E>K | Variant assessed as Somatic; 4.731e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405377422 rs1178573825 |
692 | A>S | No |
ClinGen gnomAD |
|
|
CA405377417 rs1479479656 |
692 | A>V | No |
ClinGen gnomAD |
|
|
rs1203688812 CA405377410 |
693 | L>P | No |
ClinGen gnomAD |
|
|
rs149961054 CA9380887 |
694 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs904563816 CA307764601 COSM995017 |
694 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA405377400 rs904563816 |
694 | R>P | No |
ClinGen Ensembl |
|
|
CA405377395 rs1261102061 |
695 | T>A | No |
ClinGen gnomAD |
|
|
rs766467929 CA9380886 |
695 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA405377397 rs1261102061 |
695 | T>P | No |
ClinGen gnomAD |
|
|
CA405377378 rs1599571775 |
696 | H>P | No |
ClinGen Ensembl |
|
|
CA405377372 rs1411634520 |
697 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 698 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763936814 CA9380883 |
698 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA307764600 rs865964355 |
699 | M>I | No |
ClinGen Ensembl |
|
|
rs1468255225 CA405377344 |
699 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9380882 rs762706351 |
700 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA405377330 rs1372933155 CA405377328 |
700 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1372933155 CA405377326 |
700 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762985315 CA9380881 |
702 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1184101 CA9380878 rs776225963 |
703 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770565807 CA9380877 |
703 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405377294 rs776225963 |
703 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA405377284 rs1238562299 |
704 | T>A | No |
ClinGen gnomAD |
|
|
rs1220709335 CA405377279 |
704 | T>N | No |
ClinGen TOPMed |
|
|
CA405377286 rs1238562299 |
704 | T>P | No |
ClinGen gnomAD |
|
|
CA9380875 rs777344478 |
705 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA405377259 rs1336627614 |
706 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA307764597 rs976743888 |
708 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405377196 rs1438528208 |
711 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326431863 CA405377165 |
713 | V>G | No |
ClinGen gnomAD |
|
|
CA9380872 rs779365998 |
713 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA307764596 rs1027788554 |
718 | R>Q | No |
ClinGen gnomAD |
|
|
CA9380871 rs755428118 |
718 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405377041 rs1406368758 |
721 | A>S | No |
ClinGen gnomAD |
|
|
CA9380842 rs145835787 |
721 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462000781 CA405377034 |
722 | I>T | No |
ClinGen gnomAD |
|
|
CA9380838 rs767066130 |
725 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9380837 rs761368270 |
726 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774113274 CA9380836 |
726 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA405377008 rs1599571572 |
727 | G>E | No |
ClinGen Ensembl |
|
|
CA9380834 rs749693841 |
727 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196613054 CA405376999 |
728 | D>E | No |
ClinGen gnomAD |
|
|
rs1349037795 CA405377001 |
728 | D>G | No |
ClinGen TOPMed |
|
|
rs1438411825 CA405376988 |
730 | V>A | No |
ClinGen TOPMed |
|
|
rs775868034 CA9380833 |
734 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775868034 CA405376960 |
734 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1249756172 CA405376945 |
737 | K>* | No |
ClinGen gnomAD |
|
|
rs1227300022 CA405376935 |
738 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1324946075 CA405376930 |
739 | A>P | No |
ClinGen gnomAD |
|
|
rs1324946075 CA405376931 |
739 | A>T | No |
ClinGen gnomAD |
|
|
rs746402089 CA9380831 |
741 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9380829 rs770659863 COSM995016 |
742 | G>R | endometrium Variant assessed as Somatic; 0.0004158 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1397975096 CA405376899 |
744 | A>T | No |
ClinGen gnomAD |
|
|
CA405376893 rs1288675439 |
745 | M>V | No |
ClinGen TOPMed |
|
|
rs746796959 CA307764586 |
746 | G>S | No |
ClinGen Ensembl |
|
|
CA405376869 rs1464672489 |
748 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 748 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405376873 rs1382227785 |
748 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA405376858 rs1212207981 |
750 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 751 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405376836 rs1479298595 |
753 | A>V | No |
ClinGen gnomAD |
|
|
rs1376912055 CA405376834 |
754 | K>Q | No |
ClinGen gnomAD |
|
|
CA405376792 CA405376793 rs1182790496 |
759 | M>I | No |
ClinGen gnomAD |
|
|
rs973681577 CA307764585 |
759 | M>V | No |
ClinGen Ensembl |
|
|
CA9380828 rs747181945 |
761 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9380825 rs753645038 |
763 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9380826 rs754784580 |
763 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 764 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405376741 rs1344748255 |
767 | A>V | No |
ClinGen gnomAD |
|
|
CA9380822 rs750377482 |
772 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA405376713 rs1240393202 |
772 | G>S | No |
ClinGen TOPMed |
|
|
rs750377482 CA405376710 |
772 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9380820 rs761437112 COSM88505 |
773 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1045465356 CA307764583 |
774 | E>K | No |
ClinGen TOPMed |
|
|
rs1472525962 CA405376672 |
777 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9380798 rs369099819 |
777 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9380793 COSM3198054 rs776970403 |
781 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 784 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777723789 CA307764578 |
787 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405376559 rs1412383192 |
787 | I>V | No |
ClinGen TOPMed |
|
|
CA405376456 rs1405351490 |
795 | I>S | No |
ClinGen gnomAD |
|
|
CA9380789 rs772282579 |
800 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748375907 CA9380788 |
803 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353030688 CA405376359 |
806 | T>S | No |
ClinGen TOPMed |
|
|
CA307764575 rs375301898 |
807 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA9380785 rs778443222 |
809 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 810 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 814 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9380781 CA307764574 rs142843033 |
814 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405376146 rs1279611780 |
818 | I>V | No |
ClinGen TOPMed |
|
|
CA405376038 rs1568313643 |
823 | L>P | No |
ClinGen Ensembl |
|
|
rs1273282658 CA405375960 |
827 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs960716144 COSM1750821 CA307764435 |
831 | V>A | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA405374283 rs1437258249 |
833 | L>V | No |
ClinGen gnomAD |
|
|
CA9380762 rs757868416 |
837 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307764434 rs964585771 |
839 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1568313366 CA405373929 |
842 | I>V | No |
ClinGen Ensembl |
|
|
rs1286536070 CA405373888 CA405373892 |
843 | M>I | No |
ClinGen gnomAD |
|
|
rs1317303241 CA405373901 |
843 | M>T | No |
ClinGen gnomAD |
|
|
rs1599570780 CA405373877 |
844 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 845 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754600682 CA405373832 |
846 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9380759 rs754600682 |
846 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA405373821 rs1353075008 |
846 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9380758 rs375916089 |
848 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9380757 rs766761702 |
848 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9380756 rs756604066 |
850 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768098415 CA9380754 |
852 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs145740755 CA9380753 |
852 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551864571 CA9380752 |
857 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532179695 CA9380750 |
858 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425073988 CA405373484 |
859 | P>T | No |
ClinGen gnomAD |
|
|
CA405373330 rs1194016202 |
866 | F>L | No |
ClinGen Ensembl |
|
|
CA9380746 rs746843751 |
866 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372143501 CA405373255 |
868 | I>T | No |
ClinGen TOPMed |
|
|
CA9380719 rs768189057 |
876 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768189057 CA405372699 |
876 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405372693 rs1568313148 |
877 | F>C | No |
ClinGen Ensembl |
|
|
rs760843911 CA307764354 |
879 | D>V | No |
ClinGen Ensembl |
|
|
rs1236348960 CA405372596 |
880 | Y>H | No |
ClinGen Ensembl |
|
|
rs550481947 CA307764353 |
882 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs769514644 CA9380715 |
884 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477364336 CA405372398 |
885 | A>P | No |
ClinGen gnomAD |
|
|
rs1429817599 CA405372387 |
885 | A>V | No |
ClinGen gnomAD |
|
|
CA405372339 rs1286370691 |
887 | E>G | No |
ClinGen TOPMed |
|
|
CA405372196 rs1447629773 |
891 | P>R | No |
ClinGen TOPMed |
|
|
CA405372062 rs137947088 |
895 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9380711 rs137947088 |
895 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265432281 CA405372010 |
898 | R>Q | No |
ClinGen gnomAD |
|
|
rs778187193 CA9380710 |
898 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 899 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9380707 rs371996937 |
899 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150321750 CA405371792 |
905 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150321750 CA9380703 |
905 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9380702 rs199781607 |
905 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9380704 rs150321750 |
905 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405371771 rs768430512 |
907 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9380701 rs768430512 |
907 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9380698 rs769498139 |
908 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs367658345 CA9380700 |
908 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9380699 rs367658345 |
908 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9380697 rs745505222 |
909 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs199801855 CA307764351 |
910 | Q>P | No |
ClinGen TOPMed |
|
|
rs781043807 CA405371673 |
911 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771300755 CA9380695 |
912 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs368542455 CA9380693 |
914 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462194390 CA405371535 |
917 | W>G | No |
ClinGen gnomAD |
|
|
CA405371537 rs1462194390 |
917 | W>R | No |
ClinGen gnomAD |
|
|
rs1250933562 CA405370574 |
918 | T>I | No |
ClinGen gnomAD |
|
|
CA405370550 rs542515077 |
919 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358814155 CA405370545 |
920 | G>R | No |
ClinGen gnomAD |
|
|
rs756224829 CA9380666 |
922 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929702152 COSM1392890 CA307764068 |
922 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA405370441 rs1161944004 |
925 | Q>* | No |
ClinGen gnomAD |
|
|
CA405370384 rs1599569738 |
928 | T>P | No |
ClinGen Ensembl |
|
|
CA405370355 rs1196245826 |
930 | Y>N | No |
ClinGen gnomAD |
|
|
CA9380663 rs758266158 |
931 | T>A | No |
ClinGen ExAC |
|
|
CA405370319 rs1258858572 |
933 | F>L | No |
ClinGen TOPMed |
|
|
rs759564682 CA9380660 |
935 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA307764063 rs981736352 |
936 | S>I | No |
ClinGen TOPMed |
|
|
rs765914657 CA9380658 |
937 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 938 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9380656 rs536674524 |
943 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772301702 CA9380655 |
944 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277801129 CA405370179 |
946 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405370165 rs1351662398 |
948 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 949 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321614500 CA405370149 |
950 | T>M | No |
ClinGen gnomAD |
|
|
rs769093964 CA9380652 |
951 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173475811 CA405370146 |
951 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 951 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405370138 rs1423443034 |
952 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779995326 CA9380650 |
957 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs892059585 CA307764060 |
959 | G>A | No |
ClinGen TOPMed |
|
|
CA405370076 rs1378446880 |
961 | F>L | No |
ClinGen TOPMed |
|
|
CA405370052 rs1311624031 |
963 | N>S | No |
ClinGen gnomAD |
|
|
CA405370004 rs1450564315 |
970 | I>M | No |
ClinGen gnomAD |
|
|
CA9380628 rs781158416 |
970 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA405370003 rs200663366 |
971 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200663366 COSM252370 CA9380627 |
971 | V>M | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA405369994 rs1599569473 |
972 | F>S | No |
ClinGen Ensembl |
|
|
CA405369982 rs1360565062 |
974 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA307763976 rs990540383 |
976 | I>V | No |
ClinGen Ensembl |
|
|
CA9380625 rs778844114 |
977 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9380623 rs754876106 |
978 | C>W | No |
ClinGen ExAC |
|
| TCGA novel | 982 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405369916 rs1437277196 |
983 | C>Y | No |
ClinGen gnomAD |
|
|
rs865870936 CA307763965 |
985 | G>D | No |
ClinGen Ensembl |
|
|
CA307763967 rs374851312 |
985 | G>S | No |
ClinGen TOPMed |
|
|
CA9380619 rs749899247 |
986 | M>V | No |
ClinGen ExAC |
|
|
rs28581880 CA307763962 |
988 | N>D | No |
ClinGen Ensembl |
|
|
CA405369886 rs1235567606 |
988 | N>S | No |
ClinGen gnomAD |
|
|
rs1209657028 CA405369881 |
989 | I>V | No |
ClinGen gnomAD |
|
|
CA9380617 rs761452162 |
993 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751271471 CA9380616 |
995 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200601286 CA9380614 |
996 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9380615 rs764421480 COSM3822744 |
996 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9380600 rs780666796 |
998 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9380599 rs756807518 |
1002 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs559698579 CA307763940 |
1003 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1599569339 CA405369718 |
1004 | L>P | No |
ClinGen Ensembl |
|
|
rs763693283 CA9380597 |
1006 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9380595 rs146641851 |
1007 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1360637786 CA405369650 |
1010 | I>T | No |
ClinGen gnomAD |
|
|
CA405369637 rs1444017994 |
1011 | F>V | No |
ClinGen TOPMed |
|
|
rs148503854 CA9380593 COSM292246 |
1012 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA9380592 rs777066391 |
1013 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1014 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405369563 rs1568312572 |
1016 | I>M | No |
ClinGen Ensembl |
|
|
CA405369567 rs1313155238 |
1016 | I>N | No |
ClinGen gnomAD |
|
|
rs1313155238 CA405369566 |
1016 | I>T | No |
ClinGen gnomAD |
|
|
rs1425556255 CA405369558 COSM1718120 |
1017 | R>Q | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA307763926 rs1046288378 |
1017 | R>W | No |
ClinGen Ensembl |
|
|
rs1428090470 CA405369511 |
1021 | V>A | No |
ClinGen gnomAD |
|
|
rs760879648 CA9380590 |
1022 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3938022 CA9380589 rs773459189 |
1022 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA405369493 rs1487552106 |
1023 | C>R | No |
ClinGen gnomAD |
|
|
CA405369438 rs1273089384 |
1025 | P>L | No |
ClinGen gnomAD |
|
|
CA9380573 rs766955149 |
1029 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9380572 rs761288624 |
1030 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs965120349 CA307763857 |
1035 | Y>C | No |
ClinGen gnomAD |
|
|
rs1599569161 CA405369184 |
1036 | Y>W | No |
ClinGen Ensembl |
No associated diseases with P20648
5 regional properties for P20648
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cation-transporting P-type ATPase, N-terminal | 53 - 127 | IPR004014 |
| domain | Cation-transporting P-type ATPase, C-terminal | 810 - 1019 | IPR006068 |
| domain | Gastric H+/K+-transporter P-type ATPase, N-terminal | 2 - 43 | IPR015127 |
| ptm | P-type ATPase, phosphorylation site | 387 - 393 | IPR018303 |
| domain | P-type ATPase, haloacid dehalogenase domain | 366 - 778 | IPR044492 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.19 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled cation transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in). |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| P-type potassium:proton transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) + K+(out) = ADP + phosphate + H+(out) + K+(in). |
| P-type sodium:potassium-exchanging transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in). |
| potassium ion binding | Binding to a potassium ion (K+). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular potassium ion homeostasis | Any process involved in the maintenance of an internal steady state of potassium ions at the level of a cell. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| sodium ion export across plasma membrane | The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50996 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P13607 | Atpalpha | Sodium/potassium-transporting ATPase subunit alpha | Drosophila melanogaster (Fruit fly) | PR |
| P05023 | ATP1A1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Homo sapiens (Human) | PR |
| P54707 | ATP12A | Potassium-transporting ATPase alpha chain 2 | Homo sapiens (Human) | PR |
| Q9Z1W8 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Mus musculus (Mouse) | PR |
| Q8VDN2 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Mus musculus (Mouse) | PR |
| Q6PIE5 | Atp1a2 | Sodium/potassium-transporting ATPase subunit alpha-2 | Mus musculus (Mouse) | PR |
| Q6PIC6 | Atp1a3 | Sodium/potassium-transporting ATPase subunit alpha-3 | Mus musculus (Mouse) | PR |
| Q9WV27 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Mus musculus (Mouse) | PR |
| Q64436 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Mus musculus (Mouse) | PR |
| P19156 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Sus scrofa (Pig) | PR |
| P54708 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Rattus norvegicus (Rat) | PR |
| P06685 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| Q64541 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Rattus norvegicus (Rat) | PR |
| P09626 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKAENYELY | SVELGPGPGG | DMAAKMSKKK | KAGGGGGKRK | EKLENMKKEM | EINDHQLSVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELEQKYQTSA | TKGLSASLAA | ELLLRDGPNA | LRPPRGTPEY | VKFARQLAGG | LQCLMWVAAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ICLIAFAIQA | SEGDLTTDDN | LYLAIALIAV | VVVTGCFGYY | QEFKSTNIIA | SFKNLVPQQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVIRDGDKFQ | INADQLVVGD | LVEMKGGDRV | PADIRILAAQ | GCKVDNSSLT | GESEPQTRSP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ECTHESPLET | RNIAFFSTMC | LEGTVQGLVV | NTGDRTIIGR | IASLASGVEN | EKTPIAIEIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HFVDIIAGLA | ILFGATFFIV | AMCIGYTFLR | AMVFFMAIVV | AYVPEGLLAT | VTVCLSLTAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RLASKNCVVK | NLEAVETLGS | TSVICSDKTG | TLTQNRMTVS | HLWFDNHIHT | ADTTEDQSGQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TFDQSSETWR | ALCRVLTLCN | RAAFKSGQDA | VPVPKRIVIG | DASETALLKF | SELTLGNAMG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YRDRFPKVCE | IPFNSTNKFQ | LSIHTLEDPR | DPRHLLVMKG | APERVLERCS | SILIKGQELP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LDEQWREAFQ | TAYLSLGGLG | ERVLGFCQLY | LNEKDYPPGY | AFDVEAMNFP | SSGLCFAGLV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SMIDPPRATV | PDAVLKCRTA | GIRVIMVTGD | HPITAKAIAA | SVGIISEGSE | TVEDIAARLR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VPVDQVNRKD | ARACVINGMQ | LKDMDPSELV | EALRTHPEMV | FARTSPQQKL | VIVESCQRLG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AIVAVTGDGV | NDSPALKKAD | IGVAMGIAGS | DAAKNAADMI | LLDDNFASIV | TGVEQGRLIF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DNLKKSIAYT | LTKNIPELTP | YLIYITVSVP | LPLGCITILF | IELCTDIFPS | VSLAYEKAES |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DIMHLRPRNP | KRDRLVNEPL | AAYSYFQIGA | IQSFAGFTDY | FTAMAQEGWF | PLLCVGLRAQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| WEDHHLQDLQ | DSYGQEWTFG | QRLYQQYTCY | TVFFISIEVC | QIADVLIRKT | RRLSAFQQGF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FRNKILVIAI | VFQVCIGCFL | CYCPGMPNIF | NFMPIRFQWW | LVPLPYGILI | FVYDEIRKLG |
| 1030 | |||||
| VRCCPGSWWD | QELYY |